enchondromatosis


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Related to enchondromatosis: chondromyxoid fibroma, Maffucci syndrome

enchondromatosis

[‚en‚kän·drō·mə′tō·səs]
(medicine)
A rare disorder principally involving tubular bones, especially those of the feet and hands, characterized by hamartomatous proliferation of cartilage in the metaphysis, indistinguishable in single lesions from enchondromas. Also known as chondrodysplasia; dyschondroplasia; Ollier's disease.
References in periodicals archive ?
Insights into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma.
(2) Considered a subtype of enchondromatosis, Maffucci syndrome presents with multiple enchondromas that are associated with soft tissue hemangiomas.
(3) There are studies that show mutations of the gene encoding the parathyroid hormone receptor 1 (PTH1R) occur in a small subset of patients with enchondromatosis. (4) In fact, 10% of patients with enchondromatosis harbor a mutation in the PTH1R receptor; these mutations were shown to decrease the function of the receptor by 30%.
Generalized enchondromatosis is a rare bone dysplasia that is characterized by multiple intraosseous tumors near growth-plate cartilage.
A 15-year-old girl with a history of generalized enchondromatosis presented to her pediatrician with a mass in her left parotid gland.
Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol.
Bone dysplasia--Morquio's syndrome, Ellis-Van Creveld syndrome, Ollier's disease(multiple enchondromatosis), multiple hereditary exostosis, metaphyseal dysplasia, multiple epiphyseal dysplasia 8.
Maffucci's syndrome is a congenital disorder characterized by multiple hemangiomas and enchondromatosis that can be present at birth or can appear during infancy or later in childhood.
Differential considerations for this condition include multiple exostosis, enchondromatosis, multiple epiphyseal dysplasia, Turner's syndrome without LWD, achondroplasia, chondroectodermal dysplasia, and hypoparathyroidism.